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Total deletion and a missense mutation of <i>ITPR1</i> in Japanese SCA15 families

26 Jun 2008

Abstract excerpt

BACKGROUND: Spinocerebellar ataxia type 15 (SCA15) is a progressive neurodegenerative disorder characterized by pure cerebellar ataxia, very slow progression, and distinct cerebellar atrophy. The locus for SCA15 was first mapped to 3p24.2-3pter in an Australian family. We have subsequently mapped two Japanese families presenting with ataxia and postural tremor of the head, arm, or trunk to the SCA15 locus....

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PMID: 18579805
DOI: 10.1212/01.wnl.0000311277.71046.a0

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